Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519629
rs1057519629
1 16 2498332 missense variant C/G;T snv 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1417802320
rs1417802320
1 1 7962861 missense variant A/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs41311141
rs41311141
1 22 32484019 synonymous variant A/G;T snv 3.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs45467995
rs45467995
1 1 20649062 missense variant G/A snv 0.010 1.000 1 2008 2008
dbSNP: rs55739947
rs55739947
1 15 101010802 missense variant C/A snv 9.3E-03 8.4E-03 0.010 1.000 1 2010 2010
dbSNP: rs748705829
rs748705829
1 11 233109 missense variant T/C snv 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs752804472
rs752804472
1 20 31484309 missense variant G/A;T snv 5.7E-06; 5.7E-06 0.010 1.000 1 2016 2016
dbSNP: rs758414077
rs758414077
FTL
1 19 48966681 synonymous variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs781652026
rs781652026
1 10 100989789 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs756677845
rs756677845
1 1 20638074 frameshift variant G/- del 0.700 0
dbSNP: rs111501952
rs111501952
2 1.000 0.040 12 40310461 missense variant G/A snv 4.4E-05 7.7E-05 0.010 1.000 1 2013 2013
dbSNP: rs1239756674
rs1239756674
2 1.000 0.040 X 43743818 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs139548132
rs139548132
2 1.000 1 119140608 missense variant A/C;G;T snv 3.2E-03; 1.6E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2421947
rs2421947
2 1.000 0.040 1 171863954 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs28940285
rs28940285
2 1.000 0.040 1 20645640 missense variant T/C snv 1.6E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs63750680
rs63750680
2 1.000 0.080 14 73198076 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs757199733
rs757199733
TTN
2 2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs762999184
rs762999184
2 1.000 0.080 22 32478989 missense variant C/A;T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs772784579
rs772784579
GRN
2 1.000 0.040 17 44352387 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs775809722
rs775809722
2 1.000 0.040 1 20633925 missense variant A/C;G snv 5.3E-06; 3.7E-05 0.010 1.000 1 2008 2008
dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
2 MT 14598 missense variant T/C snv 0.700 0
dbSNP: rs74315356
rs74315356
3 0.925 0.040 1 20649054 stop gained G/A snv 4.0E-06 1.4E-05 0.030 1.000 3 2006 2008
dbSNP: rs63751165
rs63751165
3 0.925 0.120 17 46010401 missense variant G/A;T snv 0.020 1.000 2 2004 2005
dbSNP: rs113388242
rs113388242
3 0.925 0.080 3 184327376 missense variant C/T snv 4.0E-05 7.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs12817488
rs12817488
3 1.000 0.040 12 122811747 intron variant G/A snv 0.39 0.010 1.000 1 2014 2014